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Laboratory Test Directory

TP53 Gene Sequencing

Components

Name Method Department Units
TP53 Gene Sequencing Sanger sequencing
Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Clotted specimen
  • Centrifuged specimen
  • Frozen specimen
  • Wrong collection tube
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.

Pathogenic germline mutations in the TP53 gene cause Li-Fraumeni syndrome and Li-Fraumeni-like syndrome, which are autosomal dominant disorders characterized by a high incidence of a variety of tumor types, including breast cancer, sarcomas, brain tumors, leukemia and adrenocortical carcinoma, which typically develop in childhood or early adulthood. The penetrance of TP53 mutations is very high, with the risk of developing a tumor by age 50 being approximately 93% for female carriers and 68% for male carriers. A mutation in the TP53 gene is found in about 60-80% of patients with Li-Fraumeni syndrome and in 40% of patients with Li-Fraumeni-like syndrome. About 7-20% of pathogenic TP53 mutations occur de novo.

Targeted mutation analysis available for other family members when mutation known (see test code FMLIS).

Forms

Lab Form

CPT Code

  • 81405